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Aliases for KCNB1 Gene

Aliases for KCNB1 Gene

  • Potassium Channel, Voltage Gated Shab Related Subfamily B, Member 1 2 3
  • Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv2.1 3 4
  • Delayed Rectifier Potassium Channel 1 3 4
  • H-DRK1 3 4
  • DRK1 3 4
  • Potassium Voltage-Gated Channel Subfamily B Member 1 3
  • Delayed Rectifier Potassium Channel Kv2.1 3
  • Potassium Channel Protein DRK1 3
  • H-DRK1 K(+) Channel 3
  • EIEE26 3
  • KV2.1 3

External Ids for KCNB1 Gene

Previous GeneCards Identifiers for KCNB1 Gene

  • GC20M047717
  • GC20M048626
  • GC20M048673
  • GC20M047421
  • GC20M047984
  • GC20M044737

Summaries for KCNB1 Gene

Entrez Gene Summary for KCNB1 Gene

  • Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNB1 Gene

KCNB1 (Potassium Channel, Voltage Gated Shab Related Subfamily B, Member 1) is a Protein Coding gene. Diseases associated with KCNB1 include epileptic encephalopathy, early infantile, 26 and blastomycosis. Among its related pathways are Metabolism and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include protein N-terminus binding and outward rectifier potassium channel activity. An important paralog of this gene is KCNB2.

UniProtKB/Swiss-Prot for KCNB1 Gene

  • Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient

Tocris Summary for KCNB1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNB1 Gene

Genomics for KCNB1 Gene

Regulatory Elements for KCNB1 Gene

Genomic Location for KCNB1 Gene

Start:
49,363,877 bp from pter
End:
49,483,961 bp from pter
Size:
120,085 bases
Orientation:
Minus strand

Genomic View for KCNB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNB1 Gene

Proteins for KCNB1 Gene

  • Protein details for KCNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14721-KCNB1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily B member 1
    Protein Accession:
    Q14721
    Secondary Accessions:
    • Q14193

    Protein attributes for KCNB1 Gene

    Size:
    858 amino acids
    Molecular mass:
    95878 Da
    Quaternary structure:
    • Heteromultimer with KCNG2, KCNG3, KCNG4, KCNS1, KCNS2, KCNS3 and KCNV2.
    SequenceCaution:
    • Sequence=AAA36156.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KCNB1 Gene

Proteomics data for KCNB1 Gene at MOPED

Post-translational modifications for KCNB1 Gene

  • Highly phosphorylated on serine residues in the C-terminal. Differential phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are all regulated by calcineurin-mediated dephosphorylation. Particularly, Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/ dephosphorylation activities. Tyr-128 can be dephosphorylated by PTPalpha and cyt-PTPepsilon. Phosphorylation levels on Ser-607 are supersensitive to neuronal activity. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5. Levels then increase to reach adult levels by P14. Phosphorylation levels on Ser-564 and Ser-607 are greatly reduced during seizures, by 40% and 85% respectively (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNB1 Gene

Domains for KCNB1 Gene

Gene Families for KCNB1 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Suggested Antigen Peptide Sequences for KCNB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14721

UniProtKB/Swiss-Prot:

KCNB1_HUMAN :
  • Q14721
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position
  • The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
Family:
  • Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily.
genes like me logo Genes that share domains with KCNB1: view

Function for KCNB1 Gene

Molecular function for KCNB1 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,Drosophila Shab-related subfamily
UniProtKB/Swiss-Prot Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient

Gene Ontology (GO) - Molecular Function for KCNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity --
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005515 protein binding IPI 10484328
GO:0015271 outward rectifier potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNB1: view

Phenotypes for KCNB1 Gene

genes like me logo Genes that share phenotypes with KCNB1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNB1 Gene

Localization for KCNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNB1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNB1 Gene COMPARTMENTS Subcellular localization image for KCNB1 gene
Compartment Confidence
plasma membrane 4
chloroplast 1
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with KCNB1: view

Pathways for KCNB1 Gene

genes like me logo Genes that share pathways with KCNB1: view

Pathways by source for KCNB1 Gene

Gene Ontology (GO) - Biological Process for KCNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport --
GO:0006813 potassium ion transport --
GO:0007268 synaptic transmission TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNB1: view

Compounds for KCNB1 Gene

(5) Tocris Compounds for KCNB1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker [504-24-5]
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(3) IUPHAR Ligand for KCNB1 Gene

Ligand Type Action Affinity Pubmed IDs
3-bicyclo[2.2.1]hept-2-yl-benzene-1,2-diol Pore Blocker None 6
linoleic acid Channel blocker None
tetraethylammonium Inhibitor None

(4) Novoseek inferred chemical compound relationships for KCNB1 Gene

Compound -log(P) Hits PubMed IDs
potassium 60.6 12
4-aminopyridine 51.7 1
tetraethylammonium 49 1
calcium 6.49 1
genes like me logo Genes that share compounds with KCNB1: view

Transcripts for KCNB1 Gene

mRNA/cDNA for KCNB1 Gene

(86) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNB1 Gene

Potassium voltage-gated channel, Shab-related subfamily, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNB1 Gene

No ASD Table

Relevant External Links for KCNB1 Gene

GeneLoc Exon Structure for
KCNB1
ECgene alternative splicing isoforms for
KCNB1

Expression for KCNB1 Gene

mRNA expression in normal human tissues for KCNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNB1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.4), Brain - Cortex (5.0), and Brain - Anterior cingulate cortex (BA24) (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNB1 Gene

SOURCE GeneReport for Unigene cluster for KCNB1 Gene Hs.84244

genes like me logo Genes that share expressions with KCNB1: view

No data available for mRNA Expression by UniProt/SwissProt for KCNB1 Gene

Orthologs for KCNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNB1 35
  • 99.73 (n)
  • 100 (a)
KCNB1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNB1 35
  • 91.96 (n)
  • 96.39 (a)
KCNB1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNB1 35
  • 93.32 (n)
  • 97.44 (a)
KCNB1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnb1 35
  • 86.62 (n)
  • 93.82 (a)
Kcnb1 16
Kcnb1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNB1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNB1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnb1 35
  • 86.91 (n)
  • 94.14 (a)
chicken
(Gallus gallus)
Aves KCNB1 35
  • 75.44 (n)
  • 84.53 (a)
KCNB1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia kcnb1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnb1 35
  • 70.22 (n)
  • 78.69 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnb1 35
  • 67.81 (n)
  • 71.04 (a)
kcnb1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shab 36
  • 25 (a)
OneToMany
Shab 37
  • 69 (a)
worm
(Caenorhabditis elegans)
Secernentea Y55F3C.3 37
  • 30 (a)
C32C4.1 37
  • 36 (a)
F44A2.2 37
  • 33 (a)
exp-2 37
  • 37 (a)
Y48A6B.6 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToMany
Species with no ortholog for KCNB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNB1 Gene

ENSEMBL:
Gene Tree for KCNB1 (if available)
TreeFam:
Gene Tree for KCNB1 (if available)

Paralogs for KCNB1 Gene

Paralogs for KCNB1 Gene

Selected SIMAP similar genes for KCNB1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNB1: view

Variants for KCNB1 Gene

Sequence variations from dbSNP and Humsavar for KCNB1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs3331 -- 49,372,064(+) TTCAA(C/T)GCGTG utr-variant-3-prime
rs9798 -- 49,372,359(-) ATTTT(A/T)TTTTG utr-variant-3-prime
rs13516 -- 49,372,423(-) CGATC(A/C)CAGCG utr-variant-3-prime
rs119416 -- 49,419,060(-) AACGT(C/T)GATTC intron-variant
rs119417 -- 49,418,683(-) TCTCT(C/T)TCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNB1 Gene

Variant ID Type Subtype PubMed ID
nsv509775 CNV Insertion 20534489
nsv912914 CNV Loss 21882294
esv2661866 CNV Deletion 23128226
nsv527882 CNV Loss 19592680
nsv459001 CNV Loss 19166990

Relevant External Links for KCNB1 Gene

HapMap Linkage Disequilibrium report
KCNB1
Human Gene Mutation Database (HGMD)
KCNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNB1 Gene

Disorders for KCNB1 Gene

UniProtKB/Swiss-Prot

KCNB1_HUMAN
  • Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269 PubMed:25164438}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for KCNB1 Gene

Relevant External Links for KCNB1

Genetic Association Database (GAD)
KCNB1
Human Genome Epidemiology (HuGE) Navigator
KCNB1
genes like me logo Genes that share disorders with KCNB1: view

Publications for KCNB1 Gene

  1. Heterologous expression of the human potassium channel Kv2.1 in clonal mammalian cells by direct cytoplasmic microinjection of cRNA. (PMID: 1283219) Ikeda S.R. … Lewis D.L. (Pflugers Arch. 1992) 4 23
  2. Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait. (PMID: 8698327) Mazzanti C.M. … Goldman D. (Hum. Genet. 1996) 23 48
  3. Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus. (PMID: 12403834) MacDonald P.E. … Gaisano H.Y. (Mol. Endocrinol. 2002) 3 23
  4. Oxygen-sensitive Kv channel gene transfer confers oxygen responsiveness to preterm rabbit and remodeled human ductus arteriosus: implications for infants with patent ductus arteriosus. (PMID: 15353504) ThAcbaud B. … Archer S.L. (Circulation 2004) 3 23
  5. Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2. (PMID: 7774931) Melis R. … Leppert M. (Genomics 1995) 2 3

Products for KCNB1 Gene

Sources for KCNB1 Gene

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